Canonical Allele Identifier: CA393851524

Gene: BLM

Linked Data

• ClinVar Variation Id: 1504545
• ClinVar RCV Id: RCV002028880 ; RCV004046122
• dbSNP Id: rs891751726
• gnomAD v4: 15-90811391-G-A
• MyVariant Identifiers: chr15:g.91354621G>A (hg19) ; chr15:g.90811391G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.90811391G>A , CM000677.2:g.90811391G>A	GRCh38
NC_000015.9:g.91354621G>A , CM000677.1:g.91354621G>A	GRCh37
NC_000015.8:g.89155625G>A	NCBI36
NG_007272.1:g.99020G>A , LRG_20:g.99020G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355112.8:c.4061G>A MANE Select	ENSP00000347232.3:p.Gly1354Asp
ENST00000560559.2:n.2634G>A
ENST00000648453.1:c.4061G>A	ENSP00000497646.1:p.Gly1354Asp
ENST00000680772.1:c.4061G>A	ENSP00000506117.1:p.Gly1354Asp
ENST00000681142.1:c.4061G>A	ENSP00000506682.1:p.Gly1354Asp
ENST00000355112.7:c.4061G>A	ENSP00000347232.3:p.Gly1354Asp
ENST00000558825.5:n.1408G>A
ENST00000559724.5:c.*2985G>A	ENSP00000453359.1:n.*2985G>A
ENST00000560509.5:c.3668G>A	ENSP00000454158.1:p.Gly1223Asp
ENST00000560821.1:n.481G>A
NM_000057.3:c.4061G>A	NP_000048.1:p.Gly1354Asp
NM_001287246.1:c.4061G>A	NP_001274175.1:p.Gly1354Asp
NM_001287247.1:c.3668G>A	NP_001274176.1:p.Gly1223Asp
NM_001287248.1:c.2936G>A	NP_001274177.1:p.Gly979Asp
XM_006720632.2:c.2099G>A	XP_006720695.1:p.Gly700Asp
XM_011521881.1:c.2747G>A	XP_011520183.1:p.Gly916Asp
XM_011521881.2:c.2747G>A	XP_011520183.1:p.Gly916Asp
NM_000057.4:c.4061G>A MANE Select	NP_000048.1:p.Gly1354Asp
NM_001287246.2:c.4061G>A	NP_001274175.1:p.Gly1354Asp
NM_001287247.2:c.3668G>A	NP_001274176.1:p.Gly1223Asp
NM_001287248.2:c.2936G>A	NP_001274177.1:p.Gly979Asp